Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
ORPHA:263297DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)25
Частый (30–79%)22
HP:0001638Cardiomyopathy
HP:0001663Ventricular fibrillation
HP:0001714Ventricular hypertrophy
HP:0001962Palpitations
HP:0002321Vertigo
HP:0002875Exertional dyspnea
HP:0003199Decreased muscle mass
HP:0003458EMG: myopathic abnormalities
HP:0003484Upper limb muscle weakness
HP:0003547Shoulder girdle muscle weakness
HP:0003722Neck flexor weakness
HP:0004756Ventricular tachycardia
HP:0005144Ventricular septal hypertrophy
HP:0009023Abdominal wall muscle weakness
HP:0009027Foot dorsiflexor weakness
HP:0010872T-wave inversion
HP:0011675Arrhythmia
HP:0011712Right bundle branch block
HP:0012251ST segment elevation
HP:0012270Decreased muscle glycogen content
HP:0031319Cardiomyocyte hypertrophy
HP:0040014Increased mitochondrial number
Исключён (0%)3
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0040081Abnormal circulating creatine kinase concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)